Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa
Identifieur interne : 000874 ( PascalFrancis/Corpus ); précédent : 000873; suivant : 000875Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa
Auteurs : Barbara Jasinska-Myga ; Jennifer Kachergus ; Carles Vilarino-Güell ; Christian Wider ; Alexandra I. Soto-Ortolaza ; Mounir Kefi ; Lefkos T. Middleton ; Lianna Ishihara-Paul ; Rachel A. Gibson ; Rim Amouri ; SAMIA BEN YAHMED ; SAMIA BEN SASSI ; Mourad Zouari ; Ghada El Euch ; Owen A. Ross ; Faycal Hentati ; Matthew J. FarrerSource :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.
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Format Inist (serveur)
NO : | PASCAL 10-0474357 INIST |
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ET : | Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa |
AU : | JASINSKA-MYGA (Barbara); KACHERGUS (Jennifer); VILARINO-GÜELL (Carles); WIDER (Christian); SOTO-ORTOLAZA (Alexandra I.); KEFI (Mounir); MIDDLETON (Lefkos T.); ISHIHARA-PAUL (Lianna); GIBSON (Rachel A.); AMOURI (Rim); SAMIA BEN YAHMED; SAMIA BEN SASSI; ZOUARI (Mourad); EL EUCH (Ghada); ROSS (Owen A.); HENTATI (Faycal); FARRER (Matthew J.) |
AF : | Division of Neurogenetics, Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 15 aut., 17 aut.); Department of Neurology, Medical University of Silesia/Katowice/Pologne (1 aut.); Service de Neurologie, Institut National de Neurologie/La Rabta, Tunis/Tunisie (6 aut., 10 aut., 11 aut., 12 aut., 13 aut., 14 aut., 16 aut.); Division of Neuroscience, Imperial College London/London/Royaume-Uni (7 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals Ltd./Harlow/Royaume-Uni (8 aut., 9 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 13; Pp. 2052-2058; Bibl. 26 ref. |
LA : | Anglais |
EA : | The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. |
CC : | 002B17; 002B17G |
FD : | Maladie de Parkinson; Pathologie du système nerveux; Séquence nucléotide; Séquençage; Homme; Maladie familiale; Afrique du Nord |
FG : | Afrique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central |
ED : | Parkinson disease; Nervous system diseases; Nucleotide sequence; Sequencing; Human; Familial disease; North Africa |
EG : | Africa; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease |
SD : | Parkinson enfermedad; Sistema nervioso patología; Secuencia nucleótido; Sequencing; Hombre; Enfermedad familiar; Africa del norte |
LO : | INIST-20953.354000193258110070 |
ID : | 10-0474357 |
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Pascal:10-0474357Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa</title>
<author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
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<s2>Jacksonville, Florida</s2>
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<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Medical University of Silesia</s1>
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<author><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name>
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<author><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name>
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<author><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name>
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<author><name sortKey="Samia Ben Yahmed" sort="Samia Ben Yahmed" uniqKey="Samia Ben Yahmed" last="Samia Ben Yahmed">SAMIA BEN YAHMED</name>
<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
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<author><name sortKey="Samia Ben Sassi" sort="Samia Ben Sassi" uniqKey="Samia Ben Sassi" last="Samia Ben Sassi">SAMIA BEN SASSI</name>
<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
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<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
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<s2>La Rabta, Tunis</s2>
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<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
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<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
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<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
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<term>Nucleotide sequence</term>
<term>Parkinson disease</term>
<term>Sequencing</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du système nerveux</term>
<term>Séquence nucléotide</term>
<term>Séquençage</term>
<term>Homme</term>
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<front><div type="abstract" xml:lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</div>
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<fA14 i1="02"><s1>Department of Neurology, Medical University of Silesia</s1>
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<s3>POL</s3>
<sZ>1 aut.</sZ>
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<fA14 i1="04"><s1>Division of Neuroscience, Imperial College London</s1>
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<sZ>7 aut.</sZ>
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<fA14 i1="05"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd.</s1>
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<sZ>8 aut.</sZ>
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<fC03 i1="03" i2="X" l="ENG"><s0>Nucleotide sequence</s0>
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<s5>10</s5>
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<s5>11</s5>
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<s5>39</s5>
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<server><NO>PASCAL 10-0474357 INIST</NO>
<ET>Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa</ET>
<AU>JASINSKA-MYGA (Barbara); KACHERGUS (Jennifer); VILARINO-GÜELL (Carles); WIDER (Christian); SOTO-ORTOLAZA (Alexandra I.); KEFI (Mounir); MIDDLETON (Lefkos T.); ISHIHARA-PAUL (Lianna); GIBSON (Rachel A.); AMOURI (Rim); SAMIA BEN YAHMED; SAMIA BEN SASSI; ZOUARI (Mourad); EL EUCH (Ghada); ROSS (Owen A.); HENTATI (Faycal); FARRER (Matthew J.)</AU>
<AF>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 15 aut., 17 aut.); Department of Neurology, Medical University of Silesia/Katowice/Pologne (1 aut.); Service de Neurologie, Institut National de Neurologie/La Rabta, Tunis/Tunisie (6 aut., 10 aut., 11 aut., 12 aut., 13 aut., 14 aut., 16 aut.); Division of Neuroscience, Imperial College London/London/Royaume-Uni (7 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals Ltd./Harlow/Royaume-Uni (8 aut., 9 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 13; Pp. 2052-2058; Bibl. 26 ref.</SO>
<LA>Anglais</LA>
<EA>The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du système nerveux; Séquence nucléotide; Séquençage; Homme; Maladie familiale; Afrique du Nord</FD>
<FG>Afrique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Nucleotide sequence; Sequencing; Human; Familial disease; North Africa</ED>
<EG>Africa; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Secuencia nucleótido; Sequencing; Hombre; Enfermedad familiar; Africa del norte</SD>
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